Marfan's Syndrome is a mutation that occurs on chromosome 15. It is an autosomal dominant trait and is also inherited through a high degrees penetrance. It could also form during very early development in the womb.
What are the symptoms and effects?
The most common symptom of this disorder is near-sightedness and lens dislocation.
People with this disorder often are taller than average. They are usually lean build but they have unusually long arms and legs. Their toes and fingers are usually long and thin. This syndrome effects the bodies connective tissues. Some with the syndrome have specific facial characteristics which include: long thin face, small bottom jaw, high roofed mouth, crowded teeth, and deep-set eyes. There are also some health risks associated with this syndrome. They include Aortic dissection and scoliosis. Double jointedness is often common in people with Marfan's.
These are some symptoms of Marfan's: loose connective tissue, elongated fingers, and a enlarged aorta.
How is a diagnosis given?
There is no simple blood test for this disorder. The diagnosis is made after many examinations from several doctors.
The examinations include a physical, eye, and heart examination.
For the physical examination an examination of the skeleton for the ratio of arm/leg size to trunk size and other changes that affect the bones and joints is done. The eye examination is called a "split lamp" examination. They look for dislocation after the pupils are dilated. Heart tests such as an echocardiogram, which is a sound-wave picture by a cardiologist, are done. It is used to examine the heart valves and aorta.
Then typically the medical geneticist collects all the findings together. The patient can be diagnosed if there is a family history of the disorder, and two body systems show physical characteristics relatively specific for Marfan's syndrome.
Characteristics associated with Marfan's syndrome include:
aortic root enlargement
aortic dissectionlens
dislocationdural ectasia
presence of 4 major skeletal features, which involve chest wall deformities, long, thin arms and legs and scoliosis.
What is the prognosis for people with Marfan's?
The prognosis for people with Marfan's syndrome has improved greatly with the advances in medical technology. The most important factor in the prognosis is how early this syndrome is diagnosed. The life expectancy for a person with Marfan's is 78 years, that of a normal healthy person.
What are the treatment options?
There is no cure for Marfan's Syndrome but treatment is available. Treatment plans vary according to the patient but general treatment involves the following:
An annual echocardiogram, which is used to monitor the function and size of the heart and aorta, periodic follow-up with an ophthalmologist to monitor lens dislocation of the eyes, monitoring of the skeletal system. Medications may be prescribed to lower blood pressure.If they have had aortic surgery they must take blood thinning medication. They also have to take antibiotics before dental work, and in other situations in which bacteria could enter the blood stream.Lifestyle adaptations must also be made such as less exercise to reduce stress on the heart.
Who many people have Marfan's?
1 in about 7,000 people have Marfan's Syndrome. This syndrome effects males and females from all ethnic groups.
Comments: While the page is quite astounding, the sentences and other quotes run off the side of the page, which makes it a bit confusing. - Color Blindness
Wow! Great page! I had no idea that a person suffering from Marfan's disease could die from their tooth being pulled. That's astounding! Great Facts! CV-2-CB
We love your page and we thought it was interesting that people think Lincoln could've had this disease. Who would've thought? HK & JM
Good job! I did not know that double jointedness was a symptom of Marfan's. TF & BS
I made a few grammatical changes. You needed a space between one of the periods and the first word of the next sentence. Also, Syndrome was capitalized where it didn't need to be. Near-sightedness needed a hyphen. Your facts and organization are very good. I also like the headings of different colors! Some people go overboard with the color, but you are doing it very well! It's a really interesting fact that some thought Abraham Lincoln had this disease. Fascinating! -HEMOPHILIA
Marfan's Syndrome
What is it?
Marfan's Syndrome is a mutation that occurs on chromosome 15. It is an autosomal dominant trait and is also inherited through a high degrees penetrance. It could also form during very early development in the womb.What are the symptoms and effects?
The most common symptom of this disorder is near-sightedness and lens dislocation.People with this disorder often are taller than average. They are usually lean build but they have unusually long arms and legs. Their toes and fingers are usually long and thin. This syndrome effects the bodies connective tissues. Some with the syndrome have specific facial characteristics which include: long thin face, small bottom jaw, high roofed mouth, crowded teeth, and deep-set eyes. There are also some health risks associated with this syndrome. They include Aortic dissection and scoliosis. Double jointedness is often common in people with Marfan's.
How is a diagnosis given?
There is no simple blood test for this disorder. The diagnosis is made after many examinations from several doctors.
The examinations include a physical, eye, and heart examination.
For the physical examination an examination of the skeleton for the ratio of arm/leg size to trunk size and other changes that affect the bones and joints is done. The eye examination is called a "split lamp" examination. They look for dislocation after the pupils are dilated. Heart tests such as an echocardiogram, which is a sound-wave picture by a cardiologist, are done. It is used to examine the heart valves and aorta.
Then typically the medical geneticist collects all the findings together. The patient can be diagnosed if there is a family history of the disorder, and two body systems show physical characteristics relatively specific for Marfan's syndrome.
Characteristics associated with Marfan's syndrome include:
What is the prognosis for people with Marfan's?
The prognosis for people with Marfan's syndrome has improved greatly with the advances in medical technology. The most important factor in the prognosis is how early this syndrome is diagnosed. The life expectancy for a person with Marfan's is 78 years, that of a normal healthy person.
What are the treatment options?
There is no cure for Marfan's Syndrome but treatment is available. Treatment plans vary according to the patient but general treatment involves the following:
An annual echocardiogram, which is used to monitor the function and size of the heart and aorta, periodic follow-up with an ophthalmologist to monitor lens dislocation of the eyes, monitoring of the skeletal system. Medications may be prescribed to lower blood pressure.If they have had aortic surgery they must take blood thinning medication. They also have to take antibiotics before dental work, and in other situations in which bacteria could enter the blood stream.Lifestyle adaptations must also be made such as less exercise to reduce stress on the heart.
Who many people have Marfan's?
1 in about 7,000 people have Marfan's Syndrome. This syndrome effects males and females from all ethnic groups.
What are some other cool facts?
Bibliography:
Benchimol, Mirelle Langier . "Eye Findings in Marfan's syndrome". Ophthalmology. April 1,2008 <http://www.medstudents.com.br/original/revisao/marfan/marfan.htm>.
Duplisea, David . "About Marfan's Syndrome". National Marfan Foundation. April 2, 2007 <http://www.marfan.org/nmf/index.jsp>.
Nemours Foundation. "Marfan's syndrome". The Nemours Foundation. April 2, 2008 <http://www.kidshealth.org/teen/diseases_conditions/genetic/marfan.html>.
Schoenstadt, Arthur . "Marfan Syndrome". eMed TV. April 4, 2008 <http://genetics.emedtv.com/marfan-syndrome/marfan-syndrome.html>.
Comments:
While the page is quite astounding, the sentences and other quotes run off the side of the page, which makes it a bit confusing. - Color Blindness
Wow! Great page! I had no idea that a person suffering from Marfan's disease could die from their tooth being pulled. That's astounding! Great Facts! CV-2-CB
We love your page and we thought it was interesting that people think Lincoln could've had this disease. Who would've thought? HK & JM
Good job! I did not know that double jointedness was a symptom of Marfan's. TF & BS
I made a few grammatical changes. You needed a space between one of the periods and the first word of the next sentence. Also, Syndrome was capitalized where it didn't need to be. Near-sightedness needed a hyphen. Your facts and organization are very good. I also like the headings of different colors! Some people go overboard with the color, but you are doing it very well! It's a really interesting fact that some thought Abraham Lincoln had this disease. Fascinating! -HEMOPHILIA